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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi


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2191-0251
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Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

Nikta Forghani1 / Catherine Lum2 / Sowmya Krishnan3 / Jining Wang4 / Darrel M. Wilson1 / Piers R. Blackett3 / Peter J. Malloy4 / David Feldman4

1Department of Pediatrics, Stanford University School of Medicine, Stanford CA 94305

2Pediatric Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817

3Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104

4Department of Medicine, Stanford University School of Medicine, Stanford CA 94305

Corresponding author: Peter J. Malloy, PhD.,

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 23, Issue 8, Pages 843–850, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2010.136, September 2010

Publication History

Published Online:
2010-09-17

ABSTRACT

1,25-Dihydroxyvitamin D3 (1,25(OH)2D3) an important regulator of bone homeostasis, mediates its actions by binding to the vitamin D receptor (VDR), a nuclear transcription factor. Mutations in the VDR cause the rare genetic disease hereditary vitamin D resistant rickets (HVDRR). In this study, we examined two unrelated young female patients who exhibited severe early onset rickets, hypocalcemia, and hypophosphatemia. Both patients had partial alopecia but with different unusual patterns of scant hair. Sequencing of the VDR gene showed that both patients harbored the same unique nonsense mutation that resulted in a premature stop codon (R50X). Skin fibroblasts from patient #1 were devoid of VDR protein and 1,25(OH)2D3 treatment of these cells failed to induce CYP24A1 gene expression, a marker of 1,25(OH)2D3 action. In conclusion, we identified a novel nonsense mutation in the VDR gene in two patients with HVDRR and alopecia. The mutation truncates the VDR protein and causes 1,25(OH)2D3 resistance.

KEY WORDS: calcitriol; calcium; hair; intravenous therapy; PTH

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